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Canonical Allele Identifier: Get Identifier
Gene: MTHFR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_005263515.1:p.[Leu346_Leu355delinsArgAlaArgSerPheTrpPro;Pro357_Tyr362delinsAlaTrpCysGlnAlaSer;Leu364_Met368delinsSerThrProSerThr;Thr370_Lys375delinsArgTrpLeuProGlnArgCys]
CA2695393934
XM_005263458.2:c.1037del